Workflow for Sequenza, cellularity and ploidy

群体遗传学分析中用到的script和skill等

VizCNV is an interactive tool designed to analyze and visualize CNVs from short read WGS data in rare disease research. Built on R Studio Shiny, it streamlines the identification of complex genomic rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.

CNV analysis based on the depth of coverage of Illumina data

An R package for detecting copy number variants from SNPs data

CNV analysis and outcome prediction in Ultra-High-Risk and First Episode Psychosis individuals 🧬

Platform for your SNP array data

An R package to integrate and analyze CNV calling results from multiple methods in a uniformed and standardized manner

Pre-compiled absolute CNV data, which can be used for package sigminer/VSHunter and CNV analysis

Powerful CNV calls filtering pipeline. Focused on fixed loci calling, before visual inspection.

CQmanager guides data analysis with CQcalc, and visualization with CQcase and CQall containers

Copy Number Variant Analyzer for Illumina Dragen files. Work in Progress...

CnQuant, is a lightweight stack of 5 applications designed to streamline the analysis of Illumina Infinium Methylation array data through a web browser.

An ONT Amplicon-Based CNV detection tool using a negative control and intra-sample coverage normalization

Data preprocessing and training of a Deep Learning graph architecture for the classification of tumor types, with focus on the most impactful genomic and clinical differences through model explainability. Use cases tested: Lung cancer (LUAD / LUSC) and Kidney cancer (KIRC / KICH / KIRP). Project for the 'AI for Bioinformatics' course.

CQall_plotter is a Python tool that aggregates CNV segment data generated by CQcalc

CQcase is a web application for visualizing single-case CNVs from precomputed CQcalc results

CNV Analysis Next-gen Variant Assessment Suite

CQcalc is a Python application for computing chromosomal copy number variations (CNVs) from Illumina Infinium Methylation Array data.